NM_000277.3:c.168+5G>C

HGVS Expressions

  • NG_008690.2:g.50625G>C
  • NM_000277.3:c.168+5G>C
  • NP_000268.1:p.?
  • NC_000012.12:g.102912786C>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

102606

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.29United Arab Emirates2Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.G.4United Arab EmiratesPathogenicPhenylketonuriaAl-Shamsi et al. 2014; Ali et al. 2011 Three separate Emirati tribes affected w...
261600.G.9United Arab Emirates16PathogenicPhenylketonuriaAl-Jasmi at al. 2016 Eight patients from three tribes
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